ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)

gnomAD frequency: 0.00001  dbSNP: rs762471207
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724745 SCV000226551 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175119 SCV000255659 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2012-12-28 criteria provided, single submitter clinical testing
Invitae RCV000175119 SCV000766730 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile661*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs762471207, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 10330340, 25135358). ClinVar contains an entry for this variant (Variation ID: 194691). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV000724745 SCV002018083 pathogenic not provided 2019-09-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003474927 SCV004211498 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-30 criteria provided, single submitter clinical testing
Counsyl RCV000175119 SCV000790610 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-04 no assertion criteria provided clinical testing
Natera, Inc. RCV000175119 SCV001456366 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000724745 SCV001797712 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000724745 SCV001952084 pathogenic not provided no assertion criteria provided clinical testing

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